SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.100883463G>A | CA488181669 | RTL1 | c.1326C>T (p.Phe442=) | dbSNP gnomAD v4 COSMIC |
| 14 | g.100883463G>C | CA390996429 | RTL1 | c.1326C>G (p.Phe442Leu) | |
| 14 | g.100883463G= | CA2159075145 | RTL1 | c.1326C= (p.Phe442=) | |
| 14 | g.100883463G>T | CA390996430 | RTL1 | c.1326C>A (p.Phe442Leu) | |
| 14 | g.100883464A>C | CA390996433 | RTL1 | c.1325T>G (p.Phe442Cys) | |
| 14 | g.100883464A>G | CA390996432 | RTL1 | c.1325T>C (p.Phe442Ser) | |
| 14 | g.100883464A>T | CA390996431 | RTL1 | c.1325T>A (p.Phe442Tyr) | |
| 14 | g.100883465A= | CA2159075146 | RTL1 | c.1324T= (p.Phe442=) | |
| 14 | g.100883465A>C | CA390996434 | RTL1 | c.1324T>G (p.Phe442Val) | |
| 14 | g.100883465A>G | CA7347326 | RTL1 | c.1324T>C (p.Phe442Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883465A>T | CA390996435 | RTL1 | c.1324T>A (p.Phe442Ile) | gnomAD v4 |
| 14 | g.100883466C>A | CA390996436 | RTL1 | c.1323G>T (p.Lys441Asn) | |
| 14 | g.100883466C= | CA2159075147 | RTL1 | c.1323G= (p.Lys441=) | |
| 14 | g.100883466C>G | CA266905819 | RTL1 | c.1323G>C (p.Lys441Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883466C>T | CA488181679 | RTL1 | c.1323G>A (p.Lys441=) | |
| 14 | g.100883467T>A | CA390996437 | RTL1 | c.1322A>T (p.Lys441Met) | |
| 14 | g.100883467T>C | CA390996438 | RTL1 | c.1322A>G (p.Lys441Arg) | |
| 14 | g.100883467T>G | CA390996439 | RTL1 | c.1322A>C (p.Lys441Thr) | gnomAD v4 |
| 14 | g.100883468T>A | CA390996440 | RTL1 | c.1321A>T (p.Lys441Ter) | |
| 14 | g.100883468T>C | CA390996441 | RTL1 | c.1321A>G (p.Lys441Glu) | |
| 14 | g.100883468T>G | CA390996442 | RTL1 | c.1321A>C (p.Lys441Gln) | |
| 14 | g.100883469C>A | CA390996443 | RTL1 | c.1320G>T (p.Glu440Asp) | |
| 14 | g.100883469C= | CA2159075150 | RTL1 | c.1320G= (p.Glu440=) | |
| 14 | g.100883469C>G | CA390996444 | RTL1 | c.1320G>C (p.Glu440Asp) | |
| 14 | g.100883469C>T | CA488181698 | RTL1 | c.1320G>A (p.Glu440=) | dbSNP |
| 14 | g.100883470T>A | CA390996446 | RTL1 | c.1319A>T (p.Glu440Val) | |
| 14 | g.100883470T>C | CA390996447 | RTL1 | c.1319A>G (p.Glu440Gly) | |
| 14 | g.100883470T>G | CA390996445 | RTL1 | c.1319A>C (p.Glu440Ala) | |
| 14 | g.100883471C>A | CA390996450 | RTL1 | c.1318G>T (p.Glu440Ter) | gnomAD v4 |
| 14 | g.100883471C>G | CA390996448 | RTL1 | c.1318G>C (p.Glu440Gln) | |
| 14 | g.100883471C>T | CA390996449 | RTL1 | c.1318G>A (p.Glu440Lys) | |
| 14 | g.100883472A>C | CA390996451 | RTL1 | c.1317T>G (p.Asp439Glu) | gnomAD v4 |
| 14 | g.100883472A>G | CA488181704 | RTL1 | c.1317T>C (p.Asp439=) | |
| 14 | g.100883472A>T | CA390996452 | RTL1 | c.1317T>A (p.Asp439Glu) | |
| 14 | g.100883473T>A | CA390996453 | RTL1 | c.1316A>T (p.Asp439Val) | |
| 14 | g.100883473T>C | CA390996454 | RTL1 | c.1316A>G (p.Asp439Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883473T>G | CA390996455 | RTL1 | c.1316A>C (p.Asp439Ala) | |
| 14 | g.100883473T= | CA2159075151 | RTL1 | c.1316A= (p.Asp439=) | |
| 14 | g.100883474C>A | CA390996458 | RTL1 | c.1315G>T (p.Asp439Tyr) | |
| 14 | g.100883474C= | CA2159075153 | RTL1 | c.1315G= (p.Asp439=) | |
| 14 | g.100883474C>G | CA390996456 | RTL1 | c.1315G>C (p.Asp439His) | |
| 14 | g.100883474C>T | CA390996457 | RTL1 | c.1315G>A (p.Asp439Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883475C>A | CA390996459 | RTL1 | c.1314G>T (p.Met438Ile) | |
| 14 | g.100883475C= | CA2159075154 | RTL1 | c.1314G= (p.Met438=) | |
| 14 | g.100883475C>G | CA390996460 | RTL1 | c.1314G>C (p.Met438Ile) | |
| 14 | g.100883475C>T | CA390996461 | RTL1 | c.1314G>A (p.Met438Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883476A= | CA2159075155 | RTL1 | c.1313T= (p.Met438=) | |
| 14 | g.100883476A>C | CA390996462 | RTL1 | c.1313T>G (p.Met438Arg) | |
| 14 | g.100883476A>G | CA390996463 | RTL1 | c.1313T>C (p.Met438Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883476A>T | CA390996464 | RTL1 | c.1313T>A (p.Met438Lys) | |
| 14 | g.100883477T>A | CA390996465 | RTL1 | c.1312A>T (p.Met438Leu) | |
| 14 | g.100883477T>C | CA390996467 | RTL1 | c.1312A>G (p.Met438Val) | gnomAD v4 |
| 14 | g.100883477T>G | CA390996466 | RTL1 | c.1312A>C (p.Met438Leu) | |
| 14 | g.100883478G>A | CA488181721 | RTL1 | c.1311C>T (p.Phe437=) | |
| 14 | g.100883478G>C | CA390996468 | RTL1 | c.1311C>G (p.Phe437Leu) | |
| 14 | g.100883478G>T | CA390996469 | RTL1 | c.1311C>A (p.Phe437Leu) | gnomAD v4 |
| 14 | g.100883478_100883479delinsGA | CA2159075156 | RTL1 | c.1310_1311delinsTC (p.Phe437=) | |
| 14 | g.100883479A>C | CA390996470 | RTL1 | c.1310T>G (p.Phe437Cys) | |
| 14 | g.100883479A>G | CA390996471 | RTL1 | c.1310T>C (p.Phe437Ser) | gnomAD v4 |
| 14 | g.100883479A>T | CA390996472 | RTL1 | c.1310T>A (p.Phe437Tyr) | |
| 14 | g.100883480del | CA2159075157 | RTL1 | c.1310del (p.Phe437SerfsTer30) | dbSNP |
| 14 | g.100883480A>C | CA390996473 | RTL1 | c.1309T>G (p.Phe437Val) | |
| 14 | g.100883480A>G | CA390996474 | RTL1 | c.1309T>C (p.Phe437Leu) | |
| 14 | g.100883480A>T | CA390996475 | RTL1 | c.1309T>A (p.Phe437Ile) | |
| 14 | g.100883481G>A | CA488181735 | RTL1 | c.1308C>T (p.Asn436=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883481G>C | CA390996476 | RTL1 | c.1308C>G (p.Asn436Lys) | |
| 14 | g.100883481G= | CA2159075158 | RTL1 | c.1308C= (p.Asn436=) | |
| 14 | g.100883481G>T | CA390996477 | RTL1 | c.1308C>A (p.Asn436Lys) | gnomAD v4 |
| 14 | g.100883482T>A | CA390996478 | RTL1 | c.1307A>T (p.Asn436Ile) | |
| 14 | g.100883482T>C | CA390996479 | RTL1 | c.1307A>G (p.Asn436Ser) | |
| 14 | g.100883482T>G | CA390996480 | RTL1 | c.1307A>C (p.Asn436Thr) | |
| 14 | g.100883483T>A | CA390996481 | RTL1 | c.1306A>T (p.Asn436Tyr) | |
| 14 | g.100883483T>C | CA390996483 | RTL1 | c.1306A>G (p.Asn436Asp) | gnomAD v4 |
| 14 | g.100883483T>G | CA390996482 | RTL1 | c.1306A>C (p.Asn436His) | |
| 14 | g.100883484G>A | CA488181742 | RTL1 | c.1305C>T (p.Gly435=) | |
| 14 | g.100883484G>C | CA488181738 | RTL1 | c.1305C>G (p.Gly435=) | |
| 14 | g.100883484G>T | CA488181740 | RTL1 | c.1305C>A (p.Gly435=) | |
| 14 | g.100883485C>A | CA390996484 | RTL1 | c.1304G>T (p.Gly435Val) | |
| 14 | g.100883485C= | CA2159075159 | RTL1 | c.1304G= (p.Gly435=) | |
| 14 | g.100883485C>G | CA390996485 | RTL1 | c.1304G>C (p.Gly435Ala) | gnomAD v4 |
| 14 | g.100883485C>T | CA390996486 | RTL1 | c.1304G>A (p.Gly435Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883485_100883486insT | CA2514427668 | RTL1 | c.1303_1304insA (p.Gly435GlufsTer6) | |
| 14 | g.100883486C>A | CA390996487 | RTL1 | c.1303G>T (p.Gly435Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883486C= | CA2159075161 | RTL1 | c.1303G= (p.Gly435=) | |
| 14 | g.100883486C>G | CA390996488 | RTL1 | c.1303G>C (p.Gly435Arg) | gnomAD v4 |
| 14 | g.100883486C>T | CA390996489 | RTL1 | c.1303G>A (p.Gly435Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883487G>A | CA488181769 | RTL1 | c.1302C>T (p.Asp434=) | dbSNP gnomAD v4 COSMIC |
| 14 | g.100883487G>C | CA390996491 | RTL1 | c.1302C>G (p.Asp434Glu) | dbSNP gnomAD v4 |
| 14 | g.100883487G= | CA2159075162 | RTL1 | c.1302C= (p.Asp434=) | |
| 14 | g.100883487G>T | CA390996490 | RTL1 | c.1302C>A (p.Asp434Glu) | |
| 14 | g.100883488_100883491del | CA2534973643 | RTL1 | c.1299_1302del (p.Asp434AlafsTer?) | |
| 14 | g.100883488T>A | CA390996492 | RTL1 | c.1301A>T (p.Asp434Val) | |
| 14 | g.100883488T>C | CA390996493 | RTL1 | c.1301A>G (p.Asp434Gly) | |
| 14 | g.100883488T>G | CA390996494 | RTL1 | c.1301A>C (p.Asp434Ala) | |
| 14 | g.100883489C>A | CA390996495 | RTL1 | c.1300G>T (p.Asp434Tyr) | |
| 14 | g.100883489C>G | CA390996496 | RTL1 | c.1300G>C (p.Asp434His) | |
| 14 | g.100883489C>T | CA390996497 | RTL1 | c.1300G>A (p.Asp434Asn) | |
| 14 | g.100883490del | CA2500840373 | RTL1 | c.1299del (p.Asp434ThrfsTer?) | |
| 14 | g.100883490A= | CA2159075164 | RTL1 | c.1299T= (p.Ala433=) | |
| 14 | g.100883490A>C | CA488181784 | RTL1 | c.1299T>G (p.Ala433=) | |
| 14 | g.100883490A>G | CA488181788 | RTL1 | c.1299T>C (p.Ala433=) | dbSNP gnomAD v4 |
| 14 | g.100883490A>T | CA488181790 | RTL1 | c.1299T>A (p.Ala433=) | |
| 14 | g.100883491G>A | CA390996498 | RTL1 | c.1298C>T (p.Ala433Val) | |
| 14 | g.100883491G>C | CA390996500 | RTL1 | c.1298C>G (p.Ala433Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883491G= | CA2159075165 | RTL1 | c.1298C= (p.Ala433=) | |
| 14 | g.100883491G>T | CA390996499 | RTL1 | c.1298C>A (p.Ala433Asp) | |
| 14 | g.100883492C>A | CA390996501 | RTL1 | c.1297G>T (p.Ala433Ser) | |
| 14 | g.100883492C>G | CA390996502 | RTL1 | c.1297G>C (p.Ala433Pro) | |
| 14 | g.100883492C>T | CA390996503 | RTL1 | c.1297G>A (p.Ala433Thr) | |
| 14 | g.100883493T>A | CA488181798 | RTL1 | c.1296A>T (p.Gly432=) | |
| 14 | g.100883493T>C | CA488181799 | RTL1 | c.1296A>G (p.Gly432=) | |
| 14 | g.100883493T>G | CA488181800 | RTL1 | c.1296A>C (p.Gly432=) | |
| 14 | g.100883493_100883503delinsTCCCGAATCCA | CA2159075166 | RTL1 | c.1286_1296delinsTGGATTCGGGA (p.Val429=) | |
| 14 | g.100883493_100883494insGG | CA2505227173 | RTL1 | c.1295_1296insCC (p.Ala433GlnfsTer?) | |
| 14 | g.100883494C>A | CA390996504 | RTL1 | c.1295G>T (p.Gly432Val) | |
| 14 | g.100883494C>G | CA390996505 | RTL1 | c.1295G>C (p.Gly432Ala) | |
| 14 | g.100883494C>T | CA390996506 | RTL1 | c.1295G>A (p.Gly432Glu) | |
| 14 | g.100883496_100883505del | CA2159075167 | RTL1 | c.1286_1295del (p.Val429GlufsTer?) | dbSNP |
| 14 | g.100883495C>A | CA390996507 | RTL1 | c.1294G>T (p.Gly432Ter) | |
| 14 | g.100883495C>G | CA390996508 | RTL1 | c.1294G>C (p.Gly432Arg) | |
| 14 | g.100883495C>T | CA390996509 | RTL1 | c.1294G>A (p.Gly432Arg) | |
| 14 | g.100883496C>A | CA488181807 | RTL1 | c.1293G>T (p.Ser431=) | |
| 14 | g.100883496C= | CA2159075168 | RTL1 | c.1293G= (p.Ser431=) | |
| 14 | g.100883496C>G | CA266905840 | RTL1 | c.1293G>C (p.Ser431=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883496C>T | CA266905830 | RTL1 | c.1293G>A (p.Ser431=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883496_100883497insCG | CA2499881842 | RTL1 | c.1292_1293insCG (p.Ala433GlufsTer?) | |
| 14 | g.100883497G>A | CA390996510 | RTL1 | c.1292C>T (p.Ser431Leu) | COSMIC |
| 14 | g.100883497G>C | CA390996512 | RTL1 | c.1292C>G (p.Ser431Trp) | |
| 14 | g.100883497G>T | CA390996511 | RTL1 | c.1292C>A (p.Ser431Ter) | |
| 14 | g.100883498A>C | CA390996513 | RTL1 | c.1291T>G (p.Ser431Ala) | |
| 14 | g.100883498A>G | CA390996514 | RTL1 | c.1291T>C (p.Ser431Pro) | |
| 14 | g.100883498A>T | CA390996515 | RTL1 | c.1291T>A (p.Ser431Thr) | |
| 14 | g.100883499A>C | CA390996516 | RTL1 | c.1290T>G (p.Asp430Glu) | gnomAD v4 |
| 14 | g.100883499A>G | CA488181815 | RTL1 | c.1290T>C (p.Asp430=) | gnomAD v4 |
| 14 | g.100883499A>T | CA390996517 | RTL1 | c.1290T>A (p.Asp430Glu) | |
| 14 | g.100883500T>A | CA390996520 | RTL1 | c.1289A>T (p.Asp430Val) | |
| 14 | g.100883500T>C | CA390996519 | RTL1 | c.1289A>G (p.Asp430Gly) | |
| 14 | g.100883500T>G | CA390996518 | RTL1 | c.1289A>C (p.Asp430Ala) | dbSNP |
| 14 | g.100883501C>A | CA390996521 | RTL1 | c.1288G>T (p.Asp430Tyr) | gnomAD v4 |
| 14 | g.100883501C>G | CA390996522 | RTL1 | c.1288G>C (p.Asp430His) | |
| 14 | g.100883501C>T | CA390996523 | RTL1 | c.1288G>A (p.Asp430Asn) | dbSNP |
| 14 | g.100883502C>A | CA488181819 | RTL1 | c.1287G>T (p.Val429=) | |
| 14 | g.100883502C>G | CA488181820 | RTL1 | c.1287G>C (p.Val429=) | |
| 14 | g.100883502C>T | CA488181822 | RTL1 | c.1287G>A (p.Val429=) | gnomAD v4 |
| 14 | g.100883503A= | CA2159075170 | RTL1 | c.1286T= (p.Val429=) | |
| 14 | g.100883503A>C | CA390996524 | RTL1 | c.1286T>G (p.Val429Gly) | |
| 14 | g.100883503A>G | CA390996525 | RTL1 | c.1286T>C (p.Val429Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883503A>T | CA390996526 | RTL1 | c.1286T>A (p.Val429Glu) | |
| 14 | g.100883504C>A | CA390996529 | RTL1 | c.1285G>T (p.Val429Leu) | |
| 14 | g.100883504C>G | CA390996527 | RTL1 | c.1285G>C (p.Val429Leu) | |
| 14 | g.100883504C>T | CA390996528 | RTL1 | c.1285G>A (p.Val429Met) | gnomAD v4 |
| 14 | g.100883505C>A | CA488181834 | RTL1 | c.1284G>T (p.Leu428=) | |
| 14 | g.100883505C>G | CA488181833 | RTL1 | c.1284G>C (p.Leu428=) | gnomAD v4 |
| 14 | g.100883505C>T | CA488181832 | RTL1 | c.1284G>A (p.Leu428=) | gnomAD v4 |
| 14 | g.100883506A>C | CA390996530 | RTL1 | c.1283T>G (p.Leu428Arg) | |
| 14 | g.100883506A>G | CA390996531 | RTL1 | c.1283T>C (p.Leu428Pro) | |
| 14 | g.100883506A>T | CA390996532 | RTL1 | c.1283T>A (p.Leu428Gln) | |
| 14 | g.100883507G>A | CA488181837 | RTL1 | c.1282C>T (p.Leu428=) | dbSNP |
| 14 | g.100883507G>C | CA390996533 | RTL1 | c.1282C>G (p.Leu428Val) | |
| 14 | g.100883507G= | CA2159075171 | RTL1 | c.1282C= (p.Leu428=) | |
| 14 | g.100883507G>T | CA390996534 | RTL1 | c.1282C>A (p.Leu428Met) | |
| 14 | g.100883509del | CA2626554046 | RTL1 | c.1282del (p.Leu428TrpfsTer?) | gnomAD v4 |
| 14 | g.100883508G>A | CA488181838 | RTL1 | c.1281C>T (p.Ala427=) | dbSNP |
| 14 | g.100883508G>C | CA488181839 | RTL1 | c.1281C>G (p.Ala427=) | |
| 14 | g.100883508G= | CA2159075172 | RTL1 | c.1281C= (p.Ala427=) | |
| 14 | g.100883508G>T | CA488181841 | RTL1 | c.1281C>A (p.Ala427=) | |
| 14 | g.100883509G>A | CA266905852 | RTL1 | c.1280C>T (p.Ala427Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883509G>C | CA390996535 | RTL1 | c.1280C>G (p.Ala427Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883509G= | CA2159075173 | RTL1 | c.1280C= (p.Ala427=) | |
| 14 | g.100883509G>T | CA390996536 | RTL1 | c.1280C>A (p.Ala427Asp) | |
| 14 | g.100883510C>A | CA390996537 | RTL1 | c.1279G>T (p.Ala427Ser) | |
| 14 | g.100883510C= | CA2159075175 | RTL1 | c.1279G= (p.Ala427=) | |
| 14 | g.100883510C>G | CA390996538 | RTL1 | c.1279G>C (p.Ala427Pro) | |
| 14 | g.100883510C>T | CA390996539 | RTL1 | c.1279G>A (p.Ala427Thr) | dbSNP |
| 14 | g.100883511C>A | CA390996540 | RTL1 | c.1278G>T (p.Gln426His) | |
| 14 | g.100883511C>G | CA390996541 | RTL1 | c.1278G>C (p.Gln426His) | |
| 14 | g.100883511C>T | CA488181846 | RTL1 | c.1278G>A (p.Gln426=) | |
| 14 | g.100883512T>A | CA390996542 | RTL1 | c.1277A>T (p.Gln426Leu) | |
| 14 | g.100883512T>C | CA390996544 | RTL1 | c.1277A>G (p.Gln426Arg) | |
| 14 | g.100883512T>G | CA390996543 | RTL1 | c.1277A>C (p.Gln426Pro) | |
| 14 | g.100883513G>A | CA390996545 | RTL1 | c.1276C>T (p.Gln426Ter) | |
| 14 | g.100883513G>C | CA390996546 | RTL1 | c.1276C>G (p.Gln426Glu) | |
| 14 | g.100883513G>T | CA390996547 | RTL1 | c.1276C>A (p.Gln426Lys) | |
| 14 | g.100883514G>A | CA488181847 | RTL1 | c.1275C>T (p.Val425=) | |
| 14 | g.100883514G>C | CA488181849 | RTL1 | c.1275C>G (p.Val425=) | |
| 14 | g.100883514G= | CA2159075178 | RTL1 | c.1275C= (p.Val425=) | |
| 14 | g.100883514G>T | CA488181851 | RTL1 | c.1275C>A (p.Val425=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883515A>C | CA390996548 | RTL1 | c.1274T>G (p.Val425Gly) | |
| 14 | g.100883515A>G | CA390996549 | RTL1 | c.1274T>C (p.Val425Ala) | |
| 14 | g.100883515A>T | CA390996550 | RTL1 | c.1274T>A (p.Val425Asp) | |
| 14 | g.100883516C>A | CA390996551 | RTL1 | c.1273G>T (p.Val425Phe) | |
| 14 | g.100883516C= | CA2159075179 | RTL1 | c.1273G= (p.Val425=) | |
| 14 | g.100883516C>G | CA390996552 | RTL1 | c.1273G>C (p.Val425Leu) | |
| 14 | g.100883516C>T | CA7347327 | RTL1 | c.1273G>A (p.Val425Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883517C>A | CA488181867 | RTL1 | c.1272G>T (p.Ala424=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883517C= | CA2159075180 | RTL1 | c.1272G= (p.Ala424=) | |
| 14 | g.100883517C>G | CA488181869 | RTL1 | c.1272G>C (p.Ala424=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883517C>T | CA7347328 | RTL1 | c.1272G>A (p.Ala424=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883518_100883524del | CA2626554060 | RTL1 | c.1266_1272del (p.Ser422ArgfsTer?) | gnomAD v4 |
| 14 | g.100883518G>A | CA266905900 | RTL1 | c.1271C>T (p.Ala424Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883518G>C | CA390996553 | RTL1 | c.1271C>G (p.Ala424Gly) | |
| 14 | g.100883518G= | CA2159075185 | RTL1 | c.1271C= (p.Ala424=) | |
| 14 | g.100883518G>T | CA390996554 | RTL1 | c.1271C>A (p.Ala424Glu) | |
| 14 | g.100883519C>A | CA390996556 | RTL1 | c.1270G>T (p.Ala424Ser) | gnomAD v4 |
| 14 | g.100883519C= | CA2159075186 | RTL1 | c.1270G= (p.Ala424=) | |
| 14 | g.100883519C>G | CA390996555 | RTL1 | c.1270G>C (p.Ala424Pro) | dbSNP |
| 14 | g.100883519C>T | CA266905903 | RTL1 | c.1270G>A (p.Ala424Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883520G>A | CA488181876 | RTL1 | c.1269C>T (p.Val423=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883520G>C | CA488181877 | RTL1 | c.1269C>G (p.Val423=) | |
| 14 | g.100883520G= | CA2159075189 | RTL1 | c.1269C= (p.Val423=) | |
| 14 | g.100883520G>T | CA488181878 | RTL1 | c.1269C>A (p.Val423=) | |
| 14 | g.100883521A>C | CA390996557 | RTL1 | c.1268T>G (p.Val423Gly) | |
| 14 | g.100883521A>G | CA390996558 | RTL1 | c.1268T>C (p.Val423Ala) | |
| 14 | g.100883521A>T | CA390996559 | RTL1 | c.1268T>A (p.Val423Asp) | |
| 14 | g.100883522C>A | CA390996560 | RTL1 | c.1267G>T (p.Val423Phe) | |
| 14 | g.100883522C= | CA2159075192 | RTL1 | c.1267G= (p.Val423=) | |
| 14 | g.100883522C>G | CA390996561 | RTL1 | c.1267G>C (p.Val423Leu) | |
| 14 | g.100883522C>T | CA7347329 | RTL1 | c.1267G>A (p.Val423Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883523G>A | CA488181885 | RTL1 | c.1266C>T (p.Ser422=) | dbSNP gnomAD v4 COSMIC |
| 14 | g.100883523G>C | CA390996562 | RTL1 | c.1266C>G (p.Ser422Arg) | gnomAD v4 |
| 14 | g.100883523G= | CA2159075193 | RTL1 | c.1266C= (p.Ser422=) | |
| 14 | g.100883523G>T | CA390996563 | RTL1 | c.1266C>A (p.Ser422Arg) | gnomAD v4 |
| 14 | g.100883524C>A | CA390996564 | RTL1 | c.1265G>T (p.Ser422Ile) | |
| 14 | g.100883524C>G | CA390996565 | RTL1 | c.1265G>C (p.Ser422Thr) | |
| 14 | g.100883524C>T | CA390996566 | RTL1 | c.1265G>A (p.Ser422Asn) | |
| 14 | g.100883525T>A | CA390996567 | RTL1 | c.1264A>T (p.Ser422Cys) | |
| 14 | g.100883525T>C | CA390996570 | RTL1 | c.1264A>G (p.Ser422Gly) | |
| 14 | g.100883525T>G | CA390996568 | RTL1 | c.1264A>C (p.Ser422Arg) | |
| 14 | g.100883526G>A | CA488181890 | RTL1 | c.1263C>T (p.His421=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883526G>C | CA390996571 | RTL1 | c.1263C>G (p.His421Gln) | |
| 14 | g.100883526G= | CA2159075194 | RTL1 | c.1263C= (p.His421=) | |
| 14 | g.100883526G>T | CA390996572 | RTL1 | c.1263C>A (p.His421Gln) | |
| 14 | g.100883526dup | CA2626554099 | RTL1 | c.1263dup (p.Ser422GlnfsTer13) | gnomAD v4 |
| 14 | g.100883527T>A | CA390996573 | RTL1 | c.1262A>T (p.His421Leu) | dbSNP |
| 14 | g.100883527T>C | CA390996574 | RTL1 | c.1262A>G (p.His421Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883527T>G | CA390996575 | RTL1 | c.1262A>C (p.His421Pro) | |
| 14 | g.100883527T= | CA2159075197 | RTL1 | c.1262A= (p.His421=) | |
| 14 | g.100883528G>A | CA390996576 | RTL1 | c.1261C>T (p.His421Tyr) | |
| 14 | g.100883528G>C | CA390996577 | RTL1 | c.1261C>G (p.His421Asp) | |
| 14 | g.100883528G>T | CA390996578 | RTL1 | c.1261C>A (p.His421Asn) | |
| 14 | g.100883529G>A | CA7347330 | RTL1 | c.1260C>T (p.Tyr420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883529G>C | CA390996579 | RTL1 | c.1260C>G (p.Tyr420Ter) | |
| 14 | g.100883529G= | CA2159075199 | RTL1 | c.1260C= (p.Tyr420=) | |
| 14 | g.100883529G>T | CA390996580 | RTL1 | c.1260C>A (p.Tyr420Ter) | |
| 14 | g.100883530T>A | CA390996581 | RTL1 | c.1259A>T (p.Tyr420Phe) | |
| 14 | g.100883530T>C | CA390996582 | RTL1 | c.1259A>G (p.Tyr420Cys) | |
| 14 | g.100883530T>G | CA390996583 | RTL1 | c.1259A>C (p.Tyr420Ser) | |
| 14 | g.100883531A= | CA2159075200 | RTL1 | c.1258T= (p.Tyr420=) | |
| 14 | g.100883531A>C | CA390996585 | RTL1 | c.1258T>G (p.Tyr420Asp) | |
| 14 | g.100883531A>G | CA266905912 | RTL1 | c.1258T>C (p.Tyr420His) | dbSNP |
| 14 | g.100883531A>T | CA390996584 | RTL1 | c.1258T>A (p.Tyr420Asn) | |
| 14 | g.100883532G>A | CA488181896 | RTL1 | c.1257C>T (p.Pro419=) | dbSNP |
| 14 | g.100883532G>C | CA488181898 | RTL1 | c.1257C>G (p.Pro419=) | |
| 14 | g.100883532G>T | CA488181899 | RTL1 | c.1257C>A (p.Pro419=) | |
| 14 | g.100883533G>A | CA390996586 | RTL1 | c.1256C>T (p.Pro419Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883533G>C | CA390996587 | RTL1 | c.1256C>G (p.Pro419Arg) | |
| 14 | g.100883533G= | CA2159075201 | RTL1 | c.1256C= (p.Pro419=) | |
| 14 | g.100883533G>T | CA390996588 | RTL1 | c.1256C>A (p.Pro419His) | |
| 14 | g.100883534G>A | CA390996589 | RTL1 | c.1255C>T (p.Pro419Ser) | COSMIC |
| 14 | g.100883534G>C | CA390996590 | RTL1 | c.1255C>G (p.Pro419Ala) | gnomAD v4 |
| 14 | g.100883534G>T | CA390996591 | RTL1 | c.1255C>A (p.Pro419Thr) | |
| 14 | g.100883535G>A | CA488181906 | RTL1 | c.1254C>T (p.Asn418=) | dbSNP |
| 14 | g.100883535G>C | CA390996592 | RTL1 | c.1254C>G (p.Asn418Lys) | |
| 14 | g.100883535G= | CA2159075202 | RTL1 | c.1254C= (p.Asn418=) | |
| 14 | g.100883535G>T | CA7347331 | RTL1 | c.1254C>A (p.Asn418Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100883536T>A | CA390996593 | RTL1 | c.1253A>T (p.Asn418Ile) | dbSNP gnomAD v4 |
| 14 | g.100883536T>C | CA390996594 | RTL1 | c.1253A>G (p.Asn418Ser) | |
| 14 | g.100883536T>G | CA390996595 | RTL1 | c.1253A>C (p.Asn418Thr) | |
| 14 | g.100883536T= | CA2159075203 | RTL1 | c.1253A= (p.Asn418=) | |
| 14 | g.100883537T>A | CA390996596 | RTL1 | c.1252A>T (p.Asn418Tyr) | |
| 14 | g.100883537T>C | CA390996597 | RTL1 | c.1252A>G (p.Asn418Asp) | |
| 14 | g.100883537T>G | CA390996598 | RTL1 | c.1252A>C (p.Asn418His) | |
| 14 | g.100883538C>A | CA488181914 | RTL1 | c.1251G>T (p.Val417=) | |
| 14 | g.100883538C>G | CA488181915 | RTL1 | c.1251G>C (p.Val417=) | gnomAD v4 |
| 14 | g.100883538C>T | CA488181917 | RTL1 | c.1251G>A (p.Val417=) | |
| 14 | g.100883539A= | CA2159075204 | RTL1 | c.1250T= (p.Val417=) | |
| 14 | g.100883539A>C | CA390996600 | RTL1 | c.1250T>G (p.Val417Gly) | dbSNP |
| 14 | g.100883539A>G | CA390996601 | RTL1 | c.1250T>C (p.Val417Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883539A>T | CA390996599 | RTL1 | c.1250T>A (p.Val417Glu) | |
| 14 | g.100883540C>A | CA390996602 | RTL1 | c.1249G>T (p.Val417Leu) | |
| 14 | g.100883540C= | CA2159075205 | RTL1 | c.1249G= (p.Val417=) | |
| 14 | g.100883540C>G | CA390996603 | RTL1 | c.1249G>C (p.Val417Leu) | gnomAD v4 |
| 14 | g.100883540C>T | CA390996604 | RTL1 | c.1249G>A (p.Val417Met) | dbSNP gnomAD v4 |
| 14 | g.100883543_100883544del | CA2626554140 | RTL1 | c.1248_1249del (p.Arg416SerfsTer18) | gnomAD v4 |
| 14 | g.100883541T>A | CA390996605 | RTL1 | c.1248A>T (p.Arg416Ser) | |
| 14 | g.100883541T>C | CA488181922 | RTL1 | c.1248A>G (p.Arg416=) | |
| 14 | g.100883541T>G | CA390996606 | RTL1 | c.1248A>C (p.Arg416Ser) | |
| 14 | g.100883542C>A | CA390996607 | RTL1 | c.1247G>T (p.Arg416Ile) | |
| 14 | g.100883542C= | CA2159075206 | RTL1 | c.1247G= (p.Arg416=) | |
| 14 | g.100883542C>G | CA390996608 | RTL1 | c.1247G>C (p.Arg416Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883542C>T | CA266905935 | RTL1 | c.1247G>A (p.Arg416Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883543T>A | CA390996609 | RTL1 | c.1246A>T (p.Arg416Ter) | |
| 14 | g.100883543T>C | CA390996610 | RTL1 | c.1246A>G (p.Arg416Gly) | |
| 14 | g.100883543T>G | CA488181925 | RTL1 | c.1246A>C (p.Arg416=) | |
| 14 | g.100883544C>A | CA488181926 | RTL1 | c.1245G>T (p.Val415=) | |
| 14 | g.100883544C>G | CA488181928 | RTL1 | c.1245G>C (p.Val415=) | COSMIC |
| 14 | g.100883544C>T | CA488181927 | RTL1 | c.1245G>A (p.Val415=) | gnomAD v4 |
| 14 | g.100883545A>C | CA390996611 | RTL1 | c.1244T>G (p.Val415Gly) | |
| 14 | g.100883545A>G | CA390996612 | RTL1 | c.1244T>C (p.Val415Ala) | |
| 14 | g.100883545A>T | CA390996613 | RTL1 | c.1244T>A (p.Val415Glu) | |
| 14 | g.100883546C>A | CA390996616 | RTL1 | c.1243G>T (p.Val415Leu) | |
| 14 | g.100883546C>G | CA390996614 | RTL1 | c.1243G>C (p.Val415Leu) | |
| 14 | g.100883546C>T | CA390996615 | RTL1 | c.1243G>A (p.Val415Met) | |
| 14 | g.100883547C>A | CA390996617 | RTL1 | c.1242G>T (p.Met414Ile) | |
| 14 | g.100883547C>G | CA390996618 | RTL1 | c.1242G>C (p.Met414Ile) | |
| 14 | g.100883547C>T | CA390996619 | RTL1 | c.1242G>A (p.Met414Ile) | |
| 14 | g.100883548A= | CA2159075207 | RTL1 | c.1241T= (p.Met414=) | |
| 14 | g.100883548A>C | CA390996620 | RTL1 | c.1241T>G (p.Met414Arg) | |
| 14 | g.100883548A>G | CA390996621 | RTL1 | c.1241T>C (p.Met414Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883548A>T | CA390996622 | RTL1 | c.1241T>A (p.Met414Lys) | |
| 14 | g.100883549T>A | CA390996623 | RTL1 | c.1240A>T (p.Met414Leu) | |
| 14 | g.100883549T>C | CA390996624 | RTL1 | c.1240A>G (p.Met414Val) | |
| 14 | g.100883549T>G | CA390996625 | RTL1 | c.1240A>C (p.Met414Leu) | |
| 14 | g.100883550G>A | CA488181936 | RTL1 | c.1239C>T (p.Leu413=) | gnomAD v4 |
| 14 | g.100883550G>C | CA488181939 | RTL1 | c.1239C>G (p.Leu413=) | |
| 14 | g.100883550G>T | CA488181938 | RTL1 | c.1239C>A (p.Leu413=) | gnomAD v4 |
| 14 | g.100883551A>C | CA390996626 | RTL1 | c.1238T>G (p.Leu413Arg) | |
| 14 | g.100883551A>G | CA390996627 | RTL1 | c.1238T>C (p.Leu413Pro) | |
| 14 | g.100883551A>T | CA390996628 | RTL1 | c.1238T>A (p.Leu413His) | |
| 14 | g.100883552G>A | CA390996629 | RTL1 | c.1237C>T (p.Leu413Phe) | |
| 14 | g.100883552G>C | CA390996631 | RTL1 | c.1237C>G (p.Leu413Val) | |
| 14 | g.100883552G>T | CA390996630 | RTL1 | c.1237C>A (p.Leu413Ile) | |
| 14 | g.100883553C>A | CA488181941 | RTL1 | c.1236G>T (p.Leu412=) | |
| 14 | g.100883553C= | CA2159075208 | RTL1 | c.1236G= (p.Leu412=) | |
| 14 | g.100883553C>G | CA488181943 | RTL1 | c.1236G>C (p.Leu412=) | |
| 14 | g.100883553C>T | CA488181947 | RTL1 | c.1236G>A (p.Leu412=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883554A>C | CA390996632 | RTL1 | c.1235T>G (p.Leu412Arg) | |
| 14 | g.100883554A>G | CA390996633 | RTL1 | c.1235T>C (p.Leu412Pro) | |
| 14 | g.100883554A>T | CA390996634 | RTL1 | c.1235T>A (p.Leu412Gln) | |
| 14 | g.100883555G>A | CA488181950 | RTL1 | c.1234C>T (p.Leu412=) | |
| 14 | g.100883555G>C | CA390996635 | RTL1 | c.1234C>G (p.Leu412Val) | |
| 14 | g.100883555G= | CA2159075209 | RTL1 | c.1234C= (p.Leu412=) | |
| 14 | g.100883555G>T | CA390996636 | RTL1 | c.1234C>A (p.Leu412Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883556C>A | CA488181951 | RTL1 | c.1233G>T (p.Leu411=) | |
| 14 | g.100883556C>G | CA488181952 | RTL1 | c.1233G>C (p.Leu411=) | |
| 14 | g.100883556C>T | CA488181954 | RTL1 | c.1233G>A (p.Leu411=) | |
| 14 | g.100883557A= | CA2159075210 | RTL1 | c.1232T= (p.Leu411=) | |
| 14 | g.100883557A>C | CA390996637 | RTL1 | c.1232T>G (p.Leu411Arg) | |
| 14 | g.100883557A>G | CA390996638 | RTL1 | c.1232T>C (p.Leu411Pro) | |
| 14 | g.100883557A>T | CA390996639 | RTL1 | c.1232T>A (p.Leu411Gln) | dbSNP gnomAD v4 |
| 14 | g.100883558G>A | CA488181958 | RTL1 | c.1231C>T (p.Leu411=) | |
| 14 | g.100883558G>C | CA390996640 | RTL1 | c.1231C>G (p.Leu411Val) | |
| 14 | g.100883558G= | CA2159075211 | RTL1 | c.1231C= (p.Leu411=) | |
| 14 | g.100883558G>T | CA390996641 | RTL1 | c.1231C>A (p.Leu411Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883559G>A | CA488181960 | RTL1 | c.1230C>T (p.Phe410=) | |
| 14 | g.100883559G>C | CA390996642 | RTL1 | c.1230C>G (p.Phe410Leu) | |
| 14 | g.100883559G>T | CA390996643 | RTL1 | c.1230C>A (p.Phe410Leu) | |
| 14 | g.100883560A>C | CA390996644 | RTL1 | c.1229T>G (p.Phe410Cys) | |
| 14 | g.100883560A>G | CA390996645 | RTL1 | c.1229T>C (p.Phe410Ser) | gnomAD v4 |
| 14 | g.100883560A>T | CA390996646 | RTL1 | c.1229T>A (p.Phe410Tyr) | |
| 14 | g.100883561A>C | CA390996647 | RTL1 | c.1228T>G (p.Phe410Val) | gnomAD v4 |
| 14 | g.100883561A>G | CA390996649 | RTL1 | c.1228T>C (p.Phe410Leu) | gnomAD v4 |
| 14 | g.100883561A>T | CA390996648 | RTL1 | c.1228T>A (p.Phe410Ile) | |
| 14 | g.100883562G>A | CA488181965 | RTL1 | c.1227C>T (p.Leu409=) | |
| 14 | g.100883562G>C | CA488181966 | RTL1 | c.1227C>G (p.Leu409=) | |
| 14 | g.100883562G>T | CA488181967 | RTL1 | c.1227C>A (p.Leu409=) | |
| 14 | g.100883563A>C | CA390996650 | RTL1 | c.1226T>G (p.Leu409Arg) | |
| 14 | g.100883563A>G | CA390996651 | RTL1 | c.1226T>C (p.Leu409Pro) | |
| 14 | g.100883563A>T | CA390996652 | RTL1 | c.1226T>A (p.Leu409His) |